Publications by authors named "Matthias A Hermasch"
Article Synopsis
- Porphyrias are a group of inherited metabolic disorders caused by enzyme dysfunctions in heme production, leading to various clinical symptoms.
- The overview covers their causes, symptoms, diagnosis, and treatment, focusing on three major types: porphyria cutanea tarda, erythropoietic protoporphyria, and variegate porphyria.
- These conditions differ in their clinical presentation and age of onset, requiring specific approaches for diagnosis and management.
Background: Mutations in the genes that encode the human γ-secretase subunits Presenilin-1, Presenilin Enhancer Protein 2, and Nicastrin (NCSTN) are associated with familial hidradenitis suppurativa (HS); and, regarding Presenilin Enhancer Protein 2, also with comorbidity for the hereditary pigmentation disorder Dowling-Degos disease.
Objective: Here, the consequences of targeted inactivation of ncstn, the zebrafish homologue of human NCSTN, were studied.
Methods: After morpholino (MO)-mediated ncstn-knockdown, the possibilities of phenotype rescue through co-injection of ncstn-MO with wildtype zebrafish ncstn or human NCSTN mRNA were investigated.